Many children with a genetic disorder are being mistakenly diagnosed with autism as well, researchers say, and the mix-up could have big consequences.
The social impairments common to those with 22q11.2 deletion syndrome, or 22q, can resemble symptoms of autism, leading many children with the condition to be classified on the spectrum. However, findings from a study published Wednesday in the Journal of Autism and Developmental Disorders suggest the two conditions may be unrelated.
For the study, researchers at the University of California, Davis MIND Institute looked at 29 children with 22q, which was previously known as DiGeorge syndrome. Each child was assessed using the Autism Diagnostic Observation Schedule and their parents were given the Social Communication Questionnaire, both considered standard for assessing autism.
Results from the testing indicated that none of the children with 22q were on the spectrum.
The finding is significant, researchers say, because previously as many as 50 percent of those with 22q were thought to have autism.
“The results of our study show that of the children involved in our study no child actually met strict diagnostic criteria for an autism spectrum disorder,” said Kathleen Angkustsiri, an assistant professor of developmental-behavioral pediatrics at the MIND Institute who led the study. “Our findings lead us to question whether this is the correct label for these children who clearly have social impairments.”
Despite the high rate of autism among those with 22q, researchers said that parents of kids with the syndrome often indicated that their children did not seem quite like others on the spectrum. And determining whether individuals with 22q have autism as well could have serious implications. That’s because treatments designed for those with autism may exacerbate anxiety that’s common among individuals with 22q, researchers said.
In addition to social awkwardness and significant anxiety, those with 22q often experience developmental delay and low IQ, among other symptoms. The condition occurs in about 1 in 2,000 people.
Researchers said the findings highlight the need for more accurate ways to evaluate children with 22q for autism as well as appropriate treatments for those with the syndrome.